dc.contributor.author | Chahal, HS | |
dc.contributor.author | Stals, K | |
dc.contributor.author | Unterlander, M | |
dc.contributor.author | Balding, DJ | |
dc.contributor.author | Thomas, MG | |
dc.contributor.author | Kumar, AV | |
dc.contributor.author | Besser, GM | |
dc.contributor.author | Atkinson, AB | |
dc.contributor.author | Morrison, PJ | |
dc.contributor.author | Howlett, TA | |
dc.contributor.author | Levy, MJ | |
dc.contributor.author | Orme, SM | |
dc.contributor.author | Akker, SA | |
dc.contributor.author | Abel, RL | |
dc.contributor.author | Grossman, AB | |
dc.contributor.author | Burger, J | |
dc.contributor.author | Ellard, Sian | |
dc.contributor.author | Korbonits, M | |
dc.date.accessioned | 2013-10-03T08:29:31Z | |
dc.date.issued | 2011-01-06 | |
dc.description.abstract | Gigantism results when a growth hormone–secreting pituitary adenoma is present
before epiphyseal fusion. In 1909, when Harvey Cushing examined the skeleton of
an Irish patient who lived from 1761 to 1783,1-3 he noted an enlarged pituitary
fossa. We extracted DNA from the patient’s teeth and identified a germline mutation
in the aryl hydrocarbon–interacting protein gene (AIP). Four contemporary
Northern Irish families who presented with gigantism, acromegaly, or prolactinoma
have the same mutation and haplotype associated with the mutated gene. Using
coalescent theory, we infer that these persons share a common ancestor who lived
about 57 to 66 generations earlier. | en_GB |
dc.identifier.citation | New England Journal of Medicine, 2011, Vol. 364, Issue 1, pp. 43 - 50 | en_GB |
dc.identifier.doi | 10.1056/NEJMoa1008020 | |
dc.identifier.uri | http://hdl.handle.net/10871/13752 | |
dc.language.iso | en | en_GB |
dc.publisher | Massachusetts Medical Society | en_GB |
dc.relation.url | http://www.nejm.org/doi/full/10.1056/NEJMoa1008020 | en_GB |
dc.title | Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2013-10-03T08:29:31Z | |
dc.identifier.issn | 0028-4793 | |
dc.description | From New England Journal of Medicine, Volume 364, issue 1, p.43-50. Copyright © (2011) Massachusetts Medical Society. Reprinted with permission. | en_GB |
dc.identifier.journal | New England Journal of Medicine | en_GB |